| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (21.2%) |
2202213 |
Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. Jones SM, Robinson LK, Sperrazza R. Am J Med Genet. 1990;36(4):404-7. |
| Skeletal dysplasia | ||
| Females Homo sapiens Infant, Newborn Osteochondrodysplasias Pregnancy Pregnancy Trimester, Third Ultrasonography | ||
| 42 (4.0%) |
30762251 |
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature. Muguet Guenot L, Aubert H, Isidor B, Toutain A, Mazereeuw-Hautier J, Collet C, Bourrat E, Denis Musquer M, Barbarot S. Pediatr Dermatol. 2019;36(2):242-246. |
| Acanthosis nigricans | ||
| p|SUB|K|650|T;RS#:121913105 | ||
| Acanthosis Nigricans Adult Bone and Bones Child Dwarfism Females Genetic Association Studies Genotype Homo sapiens Limb Deformities, Congenital Lordosis Male Mutation Phenotype Skin Young Adult | ||
| 42 (4.0%) |
30168875 |
Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients. Yasuda M, Morimoto N, Shimizu A, Toyoshima T, Yokoyama Y, Ishikawa O. J Dermatol. 2018;45(11):1357-1361. |
| Acanthosis nigricans | ||
| Acanthosis Nigricans Bone and Bones Child Dwarfism Females Homo sapiens Limb Deformities, Congenital Lordosis Male Middle Aged Missense Mutation Sex Factors Skin Skin Pigmentation | ||
| 42 (4.0%) |
29681095 |
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. Gonzalez-Del Angel A, Rius R, Alcantara-Ortigoza MA, Spector E, Del Castillo V, Mata-Garcia LE. Am J Med Genet A. 2018;176(5):1225-1231. |
| Intellectual disability | ||
| FGFR3 | ||
| Achondroplasia Bone and Bones Dwarfism Heterozygote Homo sapiens Limb Deformities, Congenital Lordosis Male Multimodal Imaging Mutation Phenotype Survivors | ||
| 42 (4.0%) |
29068064 |
Familial acanthosis nigricans with p.K650T FGFR3 mutation. Fukuchi K, Tatsuno K, Matsushita K, Kubo A, Ito T, Tokura Y. J Dermatol. 2018;45(2):207-210. |
| Acanthosis nigricans | ||
| FGFR3 | ||
| p|SUB|K|650|T;RS#:121913105 | ||
| Acanthosis Nigricans Adult Child, Preschool Exons Females Homo sapiens Infant Male Point Mutation Sequence Analysis, DNA Skin | ||
| 42 (4.0%) |
28190284 |
Foramen magnum compression in Coffin-Lowry syndrome: A case report. Upadia J, Oakes J, Hamm A, Hurst AC, Robin NH. Am J Med Genet A. 2017;173(4):1087-1089. |
| Hydrocephalus | ||
| Bone and Bones Chromosomes, Human, X Differential Diagnosis Dwarfism Exome Gene Expression Genes, Dominant High-Throughput Nucleotide Sequencing Homo sapiens Hydrocephalus Infant Limb Deformities, Congenital Lordosis Magnetic Resonance Imaging Male Point Mutation Ribosomal Protein S6 Kinases, 90-kDa | ||
| 42 (4.0%) |
20226364 |
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. Hanson AA. J Bodyw Mov Ther. 2010;14(2):172-8. |
| Fatigue | ||
| Achondroplasia Disabled Persons Exercise Tolerance Fascia Females Homo sapiens Massage Middle Aged Mobility Limitation Motion Therapy, Continuous Passive Muscle Fatigue Spinal Stenosis | ||
| 42 (4.0%) |
18000903 |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene. Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR. Am J Med Genet A. 2007;143A(24):3144-9. |
| Acanthosis nigricans | ||
| FGFR3 | ||
| c|SUB|A|1948|C;RS#:78311289 p|SUB|K|650|Q;RS#:78311289 rs78311289 | ||
| Acanthosis Nigricans Child Females Homo sapiens Missense Mutation Mutation Osteochondrodysplasias Phenotype Point Mutation Skin | ||
| 42 (4.0%) |
12794698 |
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P. Am J Med Genet A. 2003;120A(1):88-91. |
| Seizure | ||
| FGFR3 | ||
| Bone Diseases, Developmental Brain Child, Preschool Craniosynostosis Electroencephalography Epilepsy, Temporal Lobe Females Fibroblast Growth Factor Receptors Genes, Dominant Hippocampus Proper Homo sapiens Infant Magnetic Resonance Imaging Male Mutation Phenotype Protein Tyrosine Kinase Syndrome Temporal Lobe | ||
| 42 (4.0%) |
3254029 |
Surgical correction of short stature. Trivella G, Aldegheri R. Acta Paediatr Scand Suppl. 1988;347:141-6. |
| Short stature | ||
| Achondroplasia Body Height Bone Lengthening Child Ellis-Van Creveld Syndrome Females Homo sapiens Male Turner Syndrome |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001831 | Short toe | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0011405 | Childhood onset short-limb short stature | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Frequent (79-30%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Frequent (79-30%) |
| HP:0002823 | Abnormality of femur morphology | Frequent (79-30%) |
| HP:0002970 | Genu varum | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009811 | Abnormality of the elbow | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002758 | Osteoarthritis | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0003416 | Spinal canal stenosis | Occasional (29-5%) |
| HP:0006487 | Bowing of the long bones | Occasional (29-5%) |
| HP:0010535 | Sleep apnea | Occasional (29-5%) |
Total: 20
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 22 |
| HP:0004322 | Short stature | 10 |
| HP:0000956 | Acanthosis nigricans | 6 |
| HP:0000256 | Macrocephaly | 2 |
| HP:0000842 | Hyperinsulinemia | 1 |
| HP:0001258 | Spastic paraplegia | 1 |
| HP:0001943 | Hypoglycemia | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002655 | Spondyloepiphyseal dysplasia | 1 |
| HP:0002676 | Cloverleaf skull | 1 |
| HP:0002762 | Multiple exostoses | 1 |
| HP:0003026 | Short long bone | 1 |
| HP:0005716 | Lethal skeletal dysplasia | 1 |
| HP:0005758 | Basilar impression | 1 |
| HP:0008480 | Cervical spondylosis | 1 |
| HP:0010781 | Skin dimple | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0012378 | Fatigue | 1 |
| HP:0100255 | Metaphyseal dysplasia | 1 |